Alpha 1 Antitrypsin Deficiency

Alpha 1 Antitrypsin Deficiency

What is Alpha 1 Antitrypsin Deficiency?

Alpha 1 is the common name for a genetic condition called alpha 1 antitrypsin deficiency. If you have Alpha 1, your body is unable to produce a protein known as alpha 1 antitrypsin, or AAT for short. This protein plays an important role in protecting your lungs from damage due to excessive inflammation. Without this protein present in your blood, your lungs may weaken over time and place you at a higher risk for developing serious diseases, such as emphysema and chronic obstructive pulmonary disease (COPD). An abnormal amount of AAT in the liver can also cause liver disease.

1 in 1,500 - 3,500

incidence of severe Alpha 1 in people of European descent

20 - 40 yrs. old

typical occurrence of first signs and symptoms

19 million

estimated carriers of abnormal Alpha 1 genes in the United States

How is Alpha 1 Diagnosed?

Alpha 1 can only be diagnosed by a blood test. If you have a family history of Alpha 1, COPD, emphysema, irreversible asthma, unexplained liver disease, or a skin disorder called necrotizing panniculitis, you should be tested. Alpha 1 is a progressive disease, which means if it is left undiagnosed and untreated, it can get worse and may do more harm to your lungs and body over time.

How Alpha 1 Antitrypsin Works - The Liver/Lung Connection

Alpha 1 antitrypsin (AAT) is a protein made in your liver. Its main function is to protect your lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke. When you have a low level or insufficient amount of AAT protein in the blood, there is not enough traveling from the liver to your lungs, which can cause lung damage and liver disease.

Tips for Those Newly Diagnosed with Alpha 1

Feelings of isolation can be common among people diagnosed with a rare disease. But Dee Kroecker, who is living with the rare genetic condition alpha 1 antitrypsin deficiency, wants newly diagnosed patients to know that they are not alone.

Alpha 1 Patient Sets World Record

Karen Skalvoll

Fighter vs. Fighter

Karen set her sights on breaking world records – becoming the first woman, the first person using oxygen therapy and the first disabled athlete to pull a MiG-15 and an F-104 Starfighter – 15 meters (approximately 50 feet) down a runway by herself, using only raw human strength.

Early signs of hypersensitivity reactions to ZEMAIRA include hives, rash, tightness of the chest, unusual breathing difficulty, wheezing, and feeling faint. Immediately discontinue use and consult with physician if such symptoms occur.